脂肪萎缩症研究进展
被引量:1
Research progress of lipodystrophy
摘要
脂肪萎缩症又称脂肪萎缩综合征,是一种非常罕见的疾病,典型的表现为皮下脂肪组织的缺乏,包括广泛受累和局部受累,伴或不伴非萎缩部位的脂肪组织异常堆积,常合并胰岛素抵抗、血糖代谢异常、血脂代谢异常、高血压、脂肪肝等多种代谢紊乱。具体分子机制还未明确。目前很多研究证实一些基因异常可导致脂肪萎缩。
出处
《中国实用内科杂志》
CAS
CSCD
北大核心
2016年第8期701-704,共4页
Chinese Journal of Practical Internal Medicine
关键词
脂肪萎缩
基因突变
lipodystrophy
gene mutation
参考文献17
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1Haghighi A, Kavehmanesh Z, Haghighi A, et al. Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum[J]. Clin Genet, 2015 [Epub ahead of print]. 被引量:1
-
2Yang W, Thein S, Wang X, et al. BSCL2/seipin regulates adipogenesis through actin cytoskeleton remodeling[J]. Mol Genet, 2014, 23(2): 502-513. 被引量:1
-
3Briand N, Prado C, Mabilleau G, et al. Caveolin-1 expression and cavin stability regulate caveolae dynamics in adipocyte lipid store fluctuation [J]. Diabetes, 2014, 63 ( 12): 4032-4044. 被引量:1
-
4Ardissone A, Bragato C, Caffi L, et al. Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy[J]. BMC Med Genet, 2013, 14: 89. 被引量:1
-
5Eren E, Ozkan TB, Cakir ED, et al. Acquired generalized lipodystrophy associated with autoimmune hepatitis and low serum C4 level[J]. J Clin Res Pediatr Endocrinol, 2010, 2(1): 39-42. 被引量:1
-
6Soutelo J, Gruneisen M~ Fritz C, et al. Familial partial lipodystrophy type 1. A rare or underdiagnosed syndrome?[J]. Medicine, 2015, 75(1): 41-43. 被引量:1
-
7Sorkina EL, Kalashnikova MF, Melnichenko GA, et al. Familial partial lipodystrophy (Dunnigan syndrome) due to LMNA gene mutation: The first description of its clinical case in Russia[J]. Ter Arkh, 2015, 87(3): 83-87. 被引量:1
-
8Lau E, Carvalho D, Oliveira J, et al. Familial partial lipodystrophy type 3: a new mutation on the PPARG gene[J]. Hormones(Athens), 2015, 14(2): 317-320. 被引量:1
-
9Kozusko K, Tsang VH, Bottomley W, et al. Clinical and molecular characterization of a novel PLIN 1 frameshift mutation identified in patients with familial partial lipodystrophy[J]. Diabetes, 2015, 64(1): 299-310. 被引量:1
-
10Kwan JM. Mandibuloacral dysplasia type B in an infant: a rare progeroid genodermatosis[J].JAMADermatol, 2015, 151(5): 561-562. 被引量:1
二级参考文献3
-
1Garg A. Lipodystrophies: genetic and acquired body fat disor- ders. J Clin Endocrinol Metab, 2011,96 : 3313-3325. 被引量:1
-
2Striekiand LR, Guo F, Lok K, et al. Type 2 diabetes with partial lipodystrophy of the limbs: a new lipodystrophy pheno- type. Diabetes Care, 2013,36 : 2247-2253. 被引量:1
-
3Rothev KI, Brown RJ. Novel forms of lipodystrophy., why should we care? Diabetes Care,2013,36: 2142-2145. 被引量:1
共引文献4
-
1吴斌,吴铿.2型糖尿病基因诊断的研究进展[J].中国医学创新,2015,12(34):150-153. 被引量:3
-
2张新光,时毓民.时毓民教授从脾论治儿童获得性腹部脂肪萎缩经验[J].中国中西医结合杂志,2018,38(9):1141-1142.
-
3吴琪,吴雅韵,韦世杰,余玉英,陈远云,荣向路,郭姣.基于气相色谱-质谱的脂肪萎缩小鼠血浆代谢组学研究[J].世界中医药,2019,14(1):44-47. 被引量:1
-
4唐维,张美彪,杨水冰.伴视神经萎缩的部分脂肪萎缩性糖尿病一例[J].中国糖尿病杂志,2019,27(10):789-792.
-
1冯昌银,郑智勇.儿童局限性脂肪萎缩1例[J].诊断病理学杂志,2010,17(1):22-22.
-
2王金荣,熊洋洋,李斌超,付瑜,孔娟.肾纤维化的研究进展[J].医学研究杂志,2015,44(6):158-160. 被引量:11
-
3王洁晴(摘译),高景恒(审校).聚L-乳酸注射治疗HIV相关的面部脂肪萎缩:治疗原则、病例研究和文献复习[J].中国美容整形外科杂志,2009,20(3):152-152.
-
4病理学[J].国外科技资料目录(医药卫生),1998(10):9-9.
-
5赵华,李恒进.皮肤填充剂[J].国际皮肤性病学杂志,2010,36(5):262-265. 被引量:1
-
6鲁晓波,赵勇,陈红玉.抑郁症发病与血脂水平的相关性探讨[J].贵州医药,2016,40(6):605-607. 被引量:13
-
7陈凤.新生儿血糖代谢异常的相关因素分析[J].河北医药,2015,37(4):542-543. 被引量:5
-
8彭建柳,曾妙姗.主要营养素对心血管疾病影响的研究进展[J].广东教育学院学报,2010,30(3):60-67.
-
9戴明娣.精神病病人血脂代谢异常的相关因素及护理对策[J].护理研究(中旬版),2007,21(10):2672-2673.
-
10郜桂菊,张福杰.国际艾滋病医师治疗协会专家顾问委员会(IAPAC)就HIV相关形态学/代谢性并发症的处理发表报告[J].中国艾滋病性病,2005,11(3):239-240.